遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_007294.4(BRCA1):c.5074+3A>G	BRCA1	Pathogenic/Likely pathogenic	17	41219622	41219622	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5193+3&base_change=A to G,ClinGen:CA003197
single nucleotide variant	NM_007294.4(BRCA1):c.5074G>T (p.Asp1692Tyr)	BRCA1	Pathogenic	17	41219625	41219625	C	A	criteria provided, single submitter	ClinGen:CA003203
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41215969	41215969	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-1&base_change=G to A,ClinGen:CA003204
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41215969	41215969	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003206
single nucleotide variant	NM_007294.4(BRCA1):c.5075-2A>C	BRCA1	Pathogenic	17	41215970	41215970	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-2&base_change=A to C,ClinGen:CA003207
single nucleotide variant	NM_007294.4(BRCA1):c.5075-8T>G	BRCA1	Pathogenic/Likely pathogenic	17	41215976	41215976	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003214
Deletion	NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)	BRCA1	Pathogenic	17	41215965	41215968	AGCAT	A	reviewed by expert panel	ClinGen:CA003211
Deletion	NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)	BRCA1	Pathogenic/Likely pathogenic	17	41215963	41215965	TCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003219
single nucleotide variant	NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)	BRCA1	Pathogenic	17	41215963	41215963	C	A	reviewed by expert panel	ClinGen:CA003221
Deletion	NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)	BRCA1	Pathogenic	17	41215958	41215959	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5203&base_change=del TT,ClinGen:CA003222